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Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curationNARA Subscribed
Gene-based therapies are being developed for retinal diseases, including RS1- related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curation Expert Panel (VCEP) brings together clinician scientists, molecular biologists, and geneticists to apply t...
Molecular and toxicogenetic safety profile of short-term nitrous oxide anesthesia in surgical patientsNARA Subscribed
Background Nitrous oxide (N2O) is a widely used anesthetic; however, its potential to compromise genomic stability by disrupting vitamin B12 and folate metabolism remains a critical concern in clinical molecular biology. Since N2O can oxidize cobalamin, it may theoretically impair the methionine synthase pathway, leading to DNA damage. Thus, this study aimed to evaluate the toxicogenetic impact—DNA damage and gene expression—a...
Epidemiology and Species Distribution of Candida Bloodstream Infections in a Comprehensive Cancer Center, 2008–2023NARA Subscribed
Introduction Candida bloodstream infections remain a significant complication of malignancies and their therapies. Aim To investigate the epidemiology of Candida species causing bloodstream infections in patients with malignancies. Methods We retrospectively reviewed bloodstream infections due to Candida from July 2008 to June 2023 in patients admitted under hematological, solid tumor and surgical services. Common species incl...